You are here

Article Text

Article menu
Download PDFPDF
Neuromuscular
Original research
Early treatment of type II SMA slows rate of progression of scoliosis
  1. Giorgia Coratti1,2,
  2. Jacopo Lenkowicz3,
  3. Maria Carmela Pera1,2,
  4. Adele D'Amico4,
  5. Claudio Bruno5,
  6. Consolato Gullì6,
  7. Noemi Brolatti5,
  8. Marina Pedemonte5,
  9. Laura Antonaci2,
  10. Martina Ricci1,2,
  11. Anna Capasso1,2,
  12. Gianpaolo Cicala1,2,
  13. Costanza Cutrona1,
  14. Roberto de Sanctis2,
  15. Sara Carnicella2,
  16. Nicola Forcina2,
  17. Michela Cateruccia4,
  18. Maria Beatrice Damasio7,
  19. Luca Labianca8,
  20. Francesca Manfroni9,
  21. Antonio Leone6,
  22. Enrico Bertini4,
  23. Marika Pane1,
  24. Stefano Patarnello2,
  25. Vincenzo Valentini10,
  26. Eugenio Mercuri1,2
  1. 1 Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy
  2. 2 Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy
  3. 3 Gemelli Generator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
  4. 4 Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital IRCCS, Roma, Italy
  5. 5 Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy
  6. 6 Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy
  7. 7 Department of Radiology, IRCCS Istituto Giannina Gaslini, Genova, Italy
  8. 8 Department of Trauma and Orthopaedics, University of Rome La Sapienza, Rome, Italy
  9. 9 Division of traumatology, spine surgery unit, Department of surgery and transplant, Bambino Gesù Children’s Hospital IRCCS, Roma, Italy
  10. 10 Department of Bioimaging Radiation Oncology and Hematology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica S. Cuore, Roma, Italy
  1. Correspondence to Professor Eugenio Mercuri, Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome 00168, Italy; eugeniomaria.mercuri{at}unicatt.it

Abstract

Background Type II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis progression remains unclear. This study aims to evaluate potential differences in scoliosis progression between treated and untreated SMA II patients.

Methods Treatment effect on Cobb’s angle annual changes and on reaching a 50° Cobb angle was analysed in treated and untreated type II SMA patients with a minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment subpopulation based on age, Cobb angle and Hammersmith Functional Motor Scale Expanded at the initial visit. Mann-Whitney U-test assessed statistical significance.

Results There were no significant differences in baseline characteristics between the untreated (n=46) and treated (n=39) populations. The mean Cobb angle variation did not significantly differ between the two groups (p=0.4). Optimal cut-off values for a better outcome were found to be having a Cobb angle <26° or an age <4.5 years. When using optimal cut-off, the treated group showed a lower mean Cobb variation compared with the untreated group (5.61 (SD 4.72) degrees/year vs 10.05 (SD 6.38) degrees/year; p=0.01). Cox-regression analysis indicated a protective treatment effect in reaching a 50° Cobb angle, significant in patients <4.5 years old (p=0.016).

Conclusion This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population.

  • SPINAL MUSCULAR ATROPHY
  • PAEDIATRIC NEUROLOGY
  • NEUROPSYCHIATRY

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

https://doi.org/10.1136/jnnp-2023-332084

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Data availability statement

    All data relevant to the study are included in the article or uploaded as online supplemental information.

    View Full Text

    Footnotes

    • GC and JL are joint first authors.

    • Contributors GC, JL, MCP, AD’A, CB, CG, NB, MP, LA, MR, AC, GC, CC, RdS, SC, NF and MC were involved in the conception and design of the study, acquisition and analysis of data, and drafting a significant portion of the manuscript or figures. GC, JL, CG, NB, MBD, LL, FM and AL contributed to the acquisition and analysis of data and provided critical input during manuscript preparation. GC, JL and EM provided critical input during the conception and design of the study, data analysis, and manuscript preparation.EM supervised the entire study, including the conception and design, data analysis, and manuscript preparation, and made substantial contributions to all aspects of the research. EM takes full responsibility for the work and/or the conduct of the study, had access to the data, and controlled the decision to publish. All authors reviewed and approved the final manuscript.

    • Funding The work was partially funded from Biogen and Roche that are supporting the Italian registry and/or studies related to the use of its data.

    • Disclaimer Funders had no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication.

    • Competing interests GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for BIOGEN S.R.L. which owns patent rights to nusinersen of which data from patients in treatment were used in this study. GC, MCP, AD'A, MP, RdS, MC, EB, MP and EM have been a consultant for ROCHE which owns patent rights to risdiplam of which data from patients in treatment were used in this study.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.